This study investigates relationships between methyl-CpG-binding protein 2 gene (MECP2) mutation type and speech-language abilities in girls with Rett syndrome. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2015
• January 2015

People with a disability may spend more time sitting and lying (“downtime”) and less time standing and walking (“uptime”). Caregivers and therapists supporting individuals with Rett syndrome were surveyed, aiming to gather insights on how to support participation in “uptime” activities. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2021
• October 2021

Intellectual and developmental disabilities are heterogeneous in aetiology and presentation, and one cannot make assumptions about the oral health barriers of those with Rett syndrome (RTT) based on findings from generic studies. This study investigated caregivers' perceptions regarding access to dental care for those with RTT, and associations of dental treatments received by those with RTT with their caregivers' perceived value of oral health and perception of their own as well as their daughter's dental anxiety. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• March 2022

Diabetes in pregnancy (DIP), which includes pre-gestational and gestational diabetes, is more prevalent among Aboriginal women. DIP and its adverse neonatal outcomes are associated with diabetes and cardiovascular disease in the offspring. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• February 2022

The aim of this project was to identify the top 10 priorities for childhood chronic conditions and disability (CCD) research from the perspectives of children and young people with lived experience, their parents and caregivers and the professionals who work with them. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• April 2023

This study assessed the contribution of physical factors including lumbar posture to scoliosis in non-ambulatory youth with DMD in Nepal. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2014
• May 2014

This study demonstrates novel intrinsic differences in tight junctions gene and protein expression between airway epithelial cells of children with and without asthma ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2018
• May 2018

In Australia, the health and education sectors provide universal early childhood services for the same population of children. Therefore, there is a strong imperative to view service use and outcomes through a cross-sectoral lens to better understand and address the service needs of young children and their families. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• January 2022

A severity assessment was rapidly developed with input from multiple stakeholders. Refinement through ongoing validation is required for future clinical trials. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2019
• August 2019

Few studies have examined the dietary patterns of adolescents and the social and environmental factors that may affect them during this life stage. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2009
• October 2009

This study used video supplemented by parent report data to describe the gross motor profile in females with Rett syndrome (n=99) and to investigate... ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2008
• August 2008

We examined the relationship between the onset and pattern of childhood mental health disorders and subsequent current smoking status at age 17 years. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2011
• November 2011